STRC-Related Disorders: STRC Deletion/Duplication MLPA

Clinical Information

Pathogenic variants in STRC are associated with autosomal recessive non-syndromic hearing loss type 16, with prelingual onset. This is caused by homozygous or compound heterozygous variants, multi-exon or complete STRC deletions, or gene conversion between the STRC gene and the STRC pseudogene (STRCP1).

Technical Information

• This test is performed using Multiplex Ligation-dependent Probe Amplification (MLPA).
• MLPA analysis is performed to determine if copy number changes involving the STRC gene are present. MLPA is a molecular technique that allows the determination of dosage for specific sequences of interest (Schouten et al. (2002) Nucleic Acids Research 30, e57).
• Probes for STRC coding exons 19, 20, 23-25, and 28, as well as probes in the OTOA, CATSPER2, and other flanking genes as well as a variety of control probes, are analyzed and quantified; therefore, by performing test we could potentially detect copy number alterations in these genes as well.

Specimen Requirements

• The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA is also accepted for this test. Blood kits are available by request.
• Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.

Transport Instructions

• The blood specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
• Extracted DNA should be sent at room temperature via overnight delivery.